A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations

Parkinsonism & Related Disorders
Ebba LohmannFrench Parkinson's Disease Genetics Study Group

Abstract

We evaluated the neurological and neuropsychological profiles and olfaction as presymptomatic markers in a large family with Parkinson disease (PD) caused by the G2019S mutation in the LRRK2 gene. Five affected family members, 14 asymptomatic mutation carriers and 15 non-carriers were compared. Patients had typical dopa-responsive PD, frequently associated with cognitive impairment. Asymptomatic carriers and non-carriers could not be distinguished because of their neuropsychological status, the presence of depression or olfactory impairment. We were therefore unable to identify a presymptomatic marker of LRRK2-related PD.

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Citations

Mar 4, 2010·Human Molecular Genetics·Suzanne LesageUNKNOWN French Parkinson's Disease Genetics Study Group
Jul 15, 2011·Neurology·R Saunders-PullmanS B Bressman
Oct 16, 2010·Biomarkers in Medicine·James F Morley, John E Duda
Dec 24, 2011·Neurobiology of Disease·Richard L Doty
Jun 7, 2011·Parkinsonism & Related Disorders·Krisztina K JohansenJan O Aasly
May 26, 2011·Movement Disorders : Official Journal of the Movement Disorder Society·Vicki ShankerSusan Bressman
Aug 20, 2010·Movement Disorders : Official Journal of the Movement Disorder Society·Lena KertelgeMeike Kasten
Oct 13, 2011·Movement Disorders : Official Journal of the Movement Disorder Society·Kathrin BrockmannThomas Gasser
Sep 8, 2010·Movement Disorders : Official Journal of the Movement Disorder Society·Laura Silveira-MoriyamaAndrew J Lees
Feb 5, 2015·Movement Disorders : Official Journal of the Movement Disorder Society·Sindhu SrivatsalCyrus P Zabetian
Aug 14, 2013·Acta Neurologica Scandinavica·K K JohansenJ O Aasly
Dec 2, 2014·Parkinsonism & Related Disorders·Roy N AlcalayUNKNOWN LRRK2 Ashkenazi Jewish Consortium
Nov 7, 2019·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·R PireddaC Gasca-Salas
Jun 18, 2020·Frontiers in Neurology·Bruce A Chase, Katerina Markopoulou
Jun 10, 2018·Journal of Translational Medicine·Diana Luz Juárez-FloresGlòria Garrabou
Oct 6, 2017·Movement Disorders : Official Journal of the Movement Disorder Society·Sophie FenglerElke Kalbe
Nov 17, 2020·Frontiers in Aging Neuroscience·Xinyao Liu, Weidong Le

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